Literature DB >> 26174680

A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?

Lara Gharibeh1, Inaam El-Rassy, Ayman Soubra, Raya Safa, Akl Fahed, Rachel Tanos, Mariam Arabi, Zakaria Kambris, Fadi Bitar, Georges Nemer.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2015        PMID： 26174680     DOI： 10.1007/s12041-015-0514-0

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


× No keyword cloud information.
  22 in total

1.  Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites.

Authors:  S Bolk; E G Puffenberger; J Hudson; D H Morton; A Chakravarti
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

2.  Loss of Gata5 in mice leads to bicuspid aortic valve.

Authors:  Brigitte Laforest; Gregor Andelfinger; Mona Nemer
Journal:  J Clin Invest       Date:  2011-07       Impact factor: 14.808

3.  [FAMILIAL NEPHROTIC SYNDROMES. NEPHROTIC SYNDROME ASSOCIATED WITH CONGENITAL CARDIOPATHY IN 4 SISTERS].

Authors:  A FOURNIER; M PAGET; A PAULI; P DEVIN
Journal:  Pediatrie       Date:  1963

4.  Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease.

Authors:  Ratnasari Padang; Richard D Bagnall; David R Richmond; Paul G Bannon; Christopher Semsarian
Journal:  J Mol Cell Cardiol       Date:  2012-05-26       Impact factor: 5.000

5.  Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population.

Authors:  A Fuchshuber; P Niaudet; O Gribouval; G Jean; M C Gubler; M Broyer; C Antignac
Journal:  Pediatr Nephrol       Date:  1996-04       Impact factor: 3.714

6.  Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

Authors:  O Beltcheva; P Martin; U Lenkkeri; K Tryggvason
Journal:  Hum Mutat       Date:  2001-05       Impact factor: 4.878

7.  Cardiac malformations associated with the congenital nephrotic syndrome.

Authors:  V Grech; M K Chan; C Vella; S Attard Montalto; P Rees; R S Trompeter
Journal:  Pediatr Nephrol       Date:  2000-10       Impact factor: 3.714

Review 8.  Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.

Authors:  Geneviève Benoit; Eduardo Machuca; Corinne Antignac
Journal:  Pediatr Nephrol       Date:  2010-03-24       Impact factor: 3.714

9.  Genetic insights into bicuspid aortic valve formation.

Authors:  Brigitte Laforest; Mona Nemer
Journal:  Cardiol Res Pract       Date:  2012-06-04       Impact factor: 1.866

10.  Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

Authors:  Dominik S Schoeb; Gil Chernin; Saskia F Heeringa; Verena Matejas; Susanne Held; Virginia Vega-Warner; Detlef Bockenhauer; Christopher N Vlangos; Khemchand N Moorani; Thomas J Neuhaus; Jameela A Kari; James MacDonald; Pawaree Saisawat; Shazia Ashraf; Bugsu Ovunc; Martin Zenker; Friedhelm Hildebrandt
Journal:  Nephrol Dial Transplant       Date:  2010-02-18       Impact factor: 5.992
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.